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Results: 7

1.

Breast cancer

MedGen UID:
808165
Concept ID:
CN221572
Disease or Syndrome
2.

Neoplasm of the breast

A tumor (abnormal growth of tissue) of the breast. [from HPO]

MedGen UID:
506444
Concept ID:
CN116912
Finding
3.

Breast carcinoma

The presence of a carcinoma of the breast. [from HPO]

MedGen UID:
428324
Concept ID:
CN002714
Finding
4.

Neoplasm of breast

Tumors or cancer of the human BREAST. [from MeSH]

MedGen UID:
264172
Concept ID:
C1458155
Neoplastic Process
5.

Tamoxifen response

Tamoxifen is a selective estrogen receptor modulator (SERM) which is used in the treatment and prevention of breast cancer. The CYP2D6 enzyme metabolizes a quarter of all prescribed drugs, and is one of the main enzymes responsible for converting tamoxifen into its active metabolites. Individuals who carry two nonfunctioning copies of CYP2D6 are known as poor metabolizers. Individuals who carry one or two decreased activity alleles are referred to as intermediate metabolizers. Importantly, there are also heterozygous individuals who carry one inactive or decreased function allele in combination with a functional allele. These individuals have decreased CYP2D6 activity and for simplicity are frequently included in the "intermediate metabolizer group". Individuals with decreased capacity to metabolize tamoxifen may benefit less from tamoxifen therapy. At this time, the FDA-approved drug label for tamoxifen does not discuss genetic testing for CYP2D6. The National Comprehensive Cancer Network (NCCN) does not recommend CYP2D6 testing as a tool to determine the optimal adjuvant endocrine strategy, and this recommendation is consistent with the guidelines from the American Society of Clinical Oncology (ASCO). In contrast, the Dutch Pharmacogenetics Working Group has made recommendations for tamoxifen therapy based on CYP2D6 genotypes. [from Medical Genetics Summaries]

MedGen UID:
450485
Concept ID:
CN078013
Sign or Symptom
6.

Myeloproliferative syndrome, transient

A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission. [from NCI]

MedGen UID:
331782
Concept ID:
C1834582
Disease or Syndrome
7.

Myopathy with tubular aggregates

Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate Myopathy See also TAM2 (615883), caused by mutation in the ORAI1 gene (610277) on chromosome 12q24. [from OMIM]

MedGen UID:
98050
Concept ID:
C0410207
Disease or Syndrome

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